| Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans S Murdoch, U Djuric, B Mazhar, M Seoud, R Khan, R Kuick, R Bagga, ... Nature genetics 38 (3), 300-302, 2006 | 535 | 2006 |
| A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C E Verpy, M Leibovici, I Zwaenepoel, XZ Liu, A Gal, N Salem, A Mansour, ... Nature genetics 26 (1), 51-55, 2000 | 528 | 2000 |
| The infevers autoinflammatory mutation online registry: update with new genes and functions F Milhavet, L Cuisset, HM Hoffman, R Slim, H El‐Shanti, I Aksentijevich, ... Human mutation 29 (6), 803-808, 2008 | 316 | 2008 |
| Genetic mapping of a maternal locus responsible for familial hydatidiform moles YB Moglabey, R Kircheisen, M Seoud, N El Mogharbel, I Van den Veyver, ... Human molecular genetics 8 (4), 667-667, 1999 | 175 | 1999 |
| Maternal alleles acquiring paternal methylation patterns in biparental complete hydatidiform moles O El-Maarri, M Seoud, P Coullin, U Herbiniaux, J Oldenburg, G Rouleau, ... Human molecular genetics 12 (12), 1405-1413, 2003 | 171 | 2003 |
| A Newly Identified Locus for Usher Syndrome Type I, USH1E, Maps to Chromosome 21q21 H Chaïb, J Kaplan, S Gerber, C Vincent, H Ayadi, R Slim, A Munnich, ... Human molecular genetics 6 (1), 27-31, 1997 | 165 | 1997 |
| A familial case of recurrent hydatidiform molar pregnancies with biparental genomic contribution MN Helwani, M Seoud, L Zahed, G Zaatari, A Khalil, R Slim Human genetics 105, 112-115, 1999 | 138 | 1999 |
| NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation C Deveault, JH Qian, W Chebaro, A Ao, L Gilbert, A Mehio, R Khan, ... Human molecular genetics 18 (5), 888-897, 2009 | 128 | 2009 |
| A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes S Choufani, JS Shapiro, M Susiarjo, DT Butcher, D Grafodatskaya, Y Lou, ... Genome research 21 (3), 465-476, 2011 | 118 | 2011 |
| The genetics of hydatidiform moles: new lights on an ancient disease R Slim, A Mehio Clinical genetics 71 (1), 25-34, 2007 | 113 | 2007 |
| Genetics and epigenetics of recurrent hydatidiform moles: basic science and genetic counselling NMP Nguyen, R Slim Current obstetrics and gynecology reports 3, 55-64, 2014 | 111 | 2014 |
| Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations J Qian, C Deveault, R Bagga, X Xie, R Slim Human mutation 28 (7), 741-741, 2007 | 111 | 2007 |
| A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications … C Vincent, V Kalatzis, S Compain, J Levilliers, R Slim, F Graia, ML Pereira, ... Human molecular genetics 3 (10), 1859-1866, 1994 | 106 | 1994 |
| Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles JH Qian, NMP Nguyen, M Rezaei, B Huang, YL Tao, XF Zhang, Q Cheng, ... European Journal of human genetics 26 (7), 1007-1013, 2018 | 90 | 2018 |
| NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage C Messaed, W Chebaro, RB Di Roberto, C Rittore, A Cheung, J Arseneau, ... Journal of Medical Genetics 48 (8), 540-548, 2011 | 86 | 2011 |
| NLRP7, a nucleotide oligomerization domain-like receptor protein, is required for normal cytokine secretion and co-localizes with Golgi and the microtubule-organizing center C Messaed, E Akoury, U Djuric, J Zeng, M Saleh, L Gilbert, M Seoud, ... Journal of Biological Chemistry 286 (50), 43313-43323, 2011 | 82 | 2011 |
| Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with … T Eisenberger, R Slim, A Mansour, M Nauck, G Nürnberg, P Nürnberg, ... Orphanet journal of rare diseases 7, 1-6, 2012 | 81 | 2012 |
| Townes‐Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient S Marlin, S Blanchard, R Slim, D Lacombe, F Denoyelle, JL Alessandri, ... Human mutation 14 (5), 377-386, 1999 | 81 | 1999 |
| Causative mutations and mechanism of androgenetic hydatidiform moles NMP Nguyen, ZJ Ge, R Reddy, S Fahiminiya, P Sauthier, R Bagga, ... Am J Hum Genet 103 (5), 740-751, 2018 | 79 | 2018 |
| Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7 R Reddy, E Akoury, NM Phuong Nguyen, OA Abdul-Rahman, C Dery, ... European Journal of Human Genetics 21 (9), 957-964, 2013 | 77 | 2013 |
